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Expanding the AFG3L2 Spectrum | Synapse

March 26, 2026Open Access

Expanding the AFG3L2 Spectrum

Key Points

This research explores the connection between AFG3L2 gene variations and Charcot-Marie-Tooth disorders.
Identified various heterozygous and biallelic variants in the AFG3L2 gene
Examined their association with CMT phenotypes
Analyzed the functional impact of AFG3L2 haploinsufficiency
Identified specific AFG3L2 variants linked to CMT phenotypes
Demonstrated a noteworthy connection between AFG3L2 haploinsufficiency and CMT
Expanded understanding of AFG3L2's role in neurodegenerative conditions

Abstract

The AFG3L2 gene encodes a mitochondrial AAA-protease involved in inner mitochondrial membrane (IMM) proteostasis. Heterozygous variants in the AFG3L2 proteolytic domain cause Spinocerebellar Ataxia type 28, heterozygous variants in the AFG3L2 ATPase domain cause Optic Atrophy type 12, while biallelic variants lead to recessive Spastic Ataxia type 5. In this study, we aimed to investigate the link between AFG3L2 haploinsufficiency and Charcot-Marie-Tooth (CMT) phenotypes.

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Cite This Study

Rocco et al. (Mon,) studied this question.

synapsesocial.com/papers/69c4cc37fdc3bde448917807 https://doi.org/https://doi.org/10.1212/nxg.0000000000200368